| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 8 | 89933370 | 3 prime UTR variant | C/T | snv | 3.0E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 80057163 | intron variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 94308190 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 80966057 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 10 | 113729891 | 3 prime UTR variant | T/G | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 11 | 1263382 | downstream gene variant | G/A | snv | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 21 | 13514758 | upstream gene variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 4 | 55547664 | non coding transcript exon variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | X | 108084839 | 3 prime UTR variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 12 | 54340505 | start lost | A/G | snv | 0.16 | 0.17 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 5 | 55170550 | non coding transcript exon variant | G/A | snv | 1.7E-03 | 7.5E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 19 | 55364706 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 31815123 | missense variant | G/A;T | snv | 4.5E-03; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 10 | 113730350 | 3 prime UTR variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 3 | 160439163 | synonymous variant | C/T | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 1 | 11787703 | 3 prime UTR variant | G/A | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 78357871 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |